Reliable Analysis of Clinical Tumor-Only Whole-Exome Sequencing Data
نویسندگان
چکیده
منابع مشابه
Whole Exome Sequencing for Mutation Screening in Hemophagocytic Lymphohistiocytosis
Background: Hemophagocytic lymphohistiocytosis (HLH) is an immune system disorder characterized by uncontrolled hyper-inflammation owing to hypercytokinemia from the activated but ineffective cytotoxic cells. Establishing a correct diagnosis for HLH patients due to the similarity of this disease with other conditions like malignant lymphoma and leukemia and similarity among its two forms is dif...
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MOTIVATION Most tumor samples are a heterogeneous mixture of cells, including admixture by normal (non-cancerous) cells and subpopulations of cancerous cells with different complements of somatic aberrations. This intra-tumor heterogeneity complicates the analysis of somatic aberrations in DNA sequencing data from tumor samples. RESULTS We describe an algorithm called THetA2 that infers the c...
متن کاملClinical whole-exome sequencing for the diagnosis of mendelian disorders.
BACKGROUND Whole-exome sequencing is a diagnostic approach for the identification of molecular defects in patients with suspected genetic disorders. METHODS We developed technical, bioinformatic, interpretive, and validation pipelines for whole-exome sequencing in a certified clinical laboratory to identify sequence variants underlying disease phenotypes in patients. RESULTS We present data...
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Despite the exciting advent of whole-exome sequencing (WES) in medical genetics practices, the optimal interpretation of results requires further actions such as reconsidering clinical information and obtaining further laboratory testing. There are no published data to guide clinicians in this process. In a retrospective study on 93 patients who underwent clinical WES, we set out to assess and ...
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ژورنال
عنوان ژورنال: JCO Clinical Cancer Informatics
سال: 2020
ISSN: 2473-4276
DOI: 10.1200/cci.19.00130